Types of Congenital Hyperinsulinism
- Transient neonatal hyperinsulinism
- Focal hyperinsulinism
- Paternal SUR1 mutation with clonal loss of heterozygosity of 11p15
- Paternal Kir6.2 mutation with clonal loss of heterozygosity of 11p15
- Diffuse hyperinsulinism
- Autosomal recessive forms
- SUR1 mutations
- Kir6.2 mutations
- Congenital disorders of glycosylation
- Autosomal dominant forms
- Glucokinase gain-of-function mutations
- Hyperammonemic hyperinsulinism (glutamate dehydrogenase gain-of-function mutations)
- Short chain acyl coenzyme A dehydrogenase deficiency
- Autosomal recessive forms
- Beckwith-Wiedemann syndrome (thought to be due to hyperinsulinism but pathophysiology still uncertain: 11p15 mutation or IGF2 excess)
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